血管性血友病的基因变异
Genetic variants of von Willebrand's disease.
作者信息
Holmberg L, Nilsson I M
出版信息
Br Med J. 1972 Aug 5;3(5822):317-20. doi: 10.1136/bmj.3.5822.317.
Abstract
A specific antiserum against an antihaemophilic factor (AHF)-related plasma protein was raised in rabbits. A quantitative immunochemical method was used to determine the amount of this protein present in the plasma of 33 patients with haemophilia A and 70 patients with von Willebrand's disease. The protein probably consisted of AHF residing in or complexed with the von Willebrand factor. The patients with von Willebrand's disease were shown to fall into two separate genetic groups, one with decreased and one with normal amounts of the AHF-related protein. The patients with haemophilia A had normal amounts of the protein in their plasma.
摘要
在兔子体内制备了一种针对抗血友病因子（AHF）相关血浆蛋白的特异性抗血清。采用定量免疫化学方法测定了33例甲型血友病患者和70例血管性血友病患者血浆中该蛋白的含量。该蛋白可能由存在于血管性血友病因子中或与之结合的AHF组成。结果显示，血管性血友病患者可分为两个不同的基因组，一组AHF相关蛋白含量降低，另一组含量正常。甲型血友病患者血浆中该蛋白含量正常。
相似文献
1
Genetic variants of von Willebrand's disease.
Br Med J. 1972 Aug 5;3(5822):317-20. doi: 10.1136/bmj.3.5822.317.
2
Two genetic variants of von Willebrand's disease.
N Engl J Med. 1973 Mar 22;288(12):595-8. doi: 10.1056/NEJM197303222881202.
3
Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content.
J Clin Invest. 1973 Nov;52(11):2708-16. doi: 10.1172/JCI107465.
4
'Autosomal haemophilia': a variant of von Willebrand's disease.
Br J Haematol. 1974 Jan;26(1):141-52. doi: 10.1111/j.1365-2141.1974.tb00457.x.
5
Von Willebrand's disease.
Annu Rev Med. 1975;26:33-44. doi: 10.1146/annurev.me.26.020175.000341.
6
Diagnosis of von Willebrand's disease. A comparative study of diagnostic tests on nine families with von Willebrand's disease and its differential diagnosis from hemophilia and thrombocytopathy.
Am J Med. 1976 Mar;60(3):344-56. doi: 10.1016/0002-9343(76)90750-6.
7
A 1973 look at hemophilia and von Willebrand's disease.
Proc Inst Med Chic. 1973 May-Jun;29(9):296-304.
8
Defective ristocetin-induced platelet aggregation in von Willebrand's disease and its correction by factor VIII.
J Clin Invest. 1973 Nov;52(11):2697-707. doi: 10.1172/JCI107464.
9
Stabilization of factor VIII in plasma by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease.
J Clin Invest. 1977 Aug;60(2):390-404. doi: 10.1172/JCI108788.
10
Haemophilia A and von Willebrand's disease in a Swedish family.
Acta Paediatr Scand. 1972 Sep;61(5):517-25. doi: 10.1111/j.1651-2227.1972.tb15938.x.
引用本文的文献
1
Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor.
J Biol Chem. 2016 Feb 19;291(8):3848-59. doi: 10.1074/jbc.M115.703850. Epub 2015 Dec 16.
2
Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content.
J Clin Invest. 1973 Nov;52(11):2708-16. doi: 10.1172/JCI107465.
3
The defect in hemophilic and von Willebrand's disease plasmas studied by a recombination technique.
J Clin Invest. 1974 Nov;54(5):1093-9. doi: 10.1172/JCI107853.
4
Factor VIII-related antigen in tissues detected by the indirect immunofluorescence technique.
Blut. 1974 Oct;29(4):241-9. doi: 10.1007/BF01635545.
5
von Willebrand's disease in identical twins.
Indian J Pediatr. 1989 May-Jun;56(3):435-7. doi: 10.1007/BF02722321.
6
Von Willebrand's disease.
Br Med J. 1976 Sep 25;2(6038):715-6.
7
[Von Willebrand-Jürgens syndrome with a variant of factor VIII-associated antigen].
Blut. 1976 Jul;33(1):33-40. doi: 10.1007/BF01005210.
8
Presence of factor VIII-related antigen in blood platelets of patients with Von Willebrand's disease.
Nature. 1975 Oct 9;257(5526):510-12. doi: 10.1038/257510a0.
9
Effect of dextran on factor VIII (antihemophilic factor) and platelet function.
Ann Surg. 1979 Feb;189(2):243-7. doi: 10.1097/00000658-197902000-00017.
10
Surgery in von Willebrand's disease.
Ann Surg. 1979 Dec;190(6):746-52. doi: 10.1097/00000658-197912000-00014.
本文引用的文献
1
v. Willebrand's disease in Sweden; its pathogenesis and treatment.
Acta Med Scand. 1959 Jun 30;164:263-78.
2
ON A SWEDISH FAMILY WITH 51 MEMBERS AFFECTED BY VON WILLEBRAND'S DISEASE.
Acta Med Scand. 1964 May;175:627-43. doi: 10.1111/j.0954-6820.1964.tb00615.x.
3
THE DUKE AND IVY METHODS FOR DETERMINATION OF THE BLEEDING TIME.
Thromb Diath Haemorrh. 1963 Nov 1;10:223-34.
4
MEASUREMENT OF PLATELET ADHESIVENESS. A SIMPLE IN VITRO TECHNIQUE DEMONSTRATING AN ABNORMALITY IN VON WILLEBRAND'S DISEASE.
J Lab Clin Med. 1963 Nov;62:724-35.
5
Von Willebrand's disease--a plasma deficiency cause of the prolonged bleeding time.
Ann Paediatr. 1960 Jan;194:37-46.
6
[Willebrand's disease. Clinical, genetic and biological study (apropos of 22 cases)].
Nouv Rev Fr Hematol. 1961 Mar-Apr;1:231-62.
7
Von Willebrand's disease and its correction with human plasma fraction 1-0.
Acta Med Scand. 1957 Nov 29;159(3):179-88. doi: 10.1111/j.0954-6820.1957.tb00123.x.
8
On an inherited autosomal hemorrhagic diathesis with antihemophilic globulin (AHG) deficiency and prolonged bleeding time.
Acta Med Scand. 1957 Oct 30;159(1):35-57. doi: 10.1111/j.0954-6820.1957.tb00532.x.
9
Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies.
Anal Biochem. 1966 Apr;15(1):45-52. doi: 10.1016/0003-2697(66)90246-6.
10
Studies on the purification of antihemophilic factor (factor VIII). II. Separation of partially purified antihemophilic factor by gel filtration of plasma.
J Clin Invest. 1969 May;48(5):957-62. doi: 10.1172/JCI106055.
Zotero 插件